Bruce Gelb, MD
Professor & Dean for Child Health Research
Gogel Family Chair and Director of The Mindich Child Health & Development Institute
Director of the Center for Molecular Cardiology

Departments of Pediatrics and Genetics & Genomic Sciences
Icahn School of Medicine @ Mount Sinai

Department of Genetics

The RASopathies: Too much, too little and getting to just right

Talk abstract:  Noonan syndrome and the related disorders, now called the RASopathies, are phenotypically related traits arising from perturbations, largely engendering gain of function, in the RAS/mitogen-activated protein kinase signal transduction pathway. In this lecture, insights gained from phenotype-first and genotype-first studies of the RAsopathies will be provided as well as those from cell and animal model research, informing the development of mechanistic therapies for these genetic traits.

Hosted by:  Dr. Peter Jin
In-person only:  Connor Auditorium (FLTC)